Name

Phenotype

Frontotemporal Dementia (Autopsy Proven)

Inheritance

Non-familial

Onset Age

Mean: 22.0 years; Range: 22 - 22 years; 1 patient

Age at Death

Mean: 36.0 years; Range: 36 - 36 years

Disease Duration

Mean: 14.0 years; Range: 14 - 14 years

Ethnic origin

Notes

De novo mutation: both parents were free of symptoms and mutation. Paternity was confirmed by polymorphism genotyping

Mutation

MAPT Gly335Ser

Citations

Spina S, Acta neuropathologica 113: 461-470, 2007
Ghetti B, Neurodegenerative Diseases 5: 215-217, 2008

Added: January 17, 2007
Last Modified: March 21, 2008

ID: 650